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Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

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dc.contributor Háskóli Íslands
dc.contributor University of Iceland
dc.contributor.author Shah, Sonia
dc.contributor.author Gudbjartsson, Daniel
dc.contributor.author Thorsteinsdottir, Unnur
dc.contributor.author Stefansson, Kari
dc.date.accessioned 2021-01-13T14:52:17Z
dc.date.available 2021-01-13T14:52:17Z
dc.date.issued 2020-01-09
dc.identifier.citation Shah, S., Henry, A., Roselli, C. et al. Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure. Nature Communications 11, 163 (2020). https://doi.org/10.1038/s41467-019-13690-5
dc.identifier.issn 2041-1723
dc.identifier.uri https://hdl.handle.net/20.500.11815/2361
dc.description Publisher's version (útgefin grein)
dc.description.abstract Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insights, leaving the observed heritability of HF largely unexplained. We report results from a GWAS meta-analysis of HF comprising 47,309 cases and 930,014 controls. Twelve independent variants at 11 genomic loci are associated with HF, all of which demonstrate one or more associations with coronary artery disease (CAD), atrial fibrillation, or reduced left ventricular function, suggesting shared genetic aetiology. Functional analysis of non-CAD-associated loci implicate genes involved in cardiac development (MYOZ1, SYNPO2L), protein homoeostasis (BAG3), and cellular senescence (CDKN1A). Mendelian randomisation analysis supports causal roles for several HF risk factors, and demonstrates CAD-independent effects for atrial fibrillation, body mass index, and hypertension. These findings extend our knowledge of the pathways underlying HF and may inform new therapeutic strategies.
dc.description.sponsorship We acknowledge the contribution from the EchoGen Consortium.
dc.format.extent 163
dc.language.iso en
dc.publisher Springer Science and Business Media LLC
dc.relation.ispartofseries Nature Communications;11(1)
dc.rights info:eu-repo/semantics/openAccess
dc.subject Heart failure
dc.subject Morbidity
dc.subject Mortality
dc.subject Genome-Wide Association Study
dc.subject Blóðrásarsjúkdómar
dc.subject Dánartíðni
dc.subject Erfðarannsóknir
dc.title Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure
dc.type info:eu-repo/semantics/article
dcterms.license Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
dc.description.version Peer Reviewed
dc.identifier.journal Nature Communications
dc.identifier.doi 10.1038/s41467-019-13690-5
dc.relation.url https://www.nature.com/articles/s41467-019-13690-5
dc.contributor.department Læknadeild (HÍ)
dc.contributor.department Faculty of Medicine (UI)
dc.contributor.school Verkfræði- og náttúruvísindasvið (HÍ)
dc.contributor.school School of Engineering and Natural Sciences (UI)
dc.contributor.school Heilbrigðisvísindasvið (HÍ)
dc.contributor.school School of Health Sciences (UI)

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